Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey

Buchanan, James; Hill, Melissa; Vass, Caroline; Hammond, Jennifer; Riedijk, Sam; Klapwijk, Jasmijn E; Harding, Eleanor; Lou, Stina; Vogel, Ida; Hui, Lisa; Ingvoldstad-Malmgren, Charlotta; Soller, Maria; Ormond, Kelly E.; Choolani, Mahesh; Zheng, Qian; Chitty, Lyn S.; Lewis, Colin M.

doi:10.1002/pd.6159

Cited by 9 publications

(29 citation statements)

References 63 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Section: Introductionmentioning

confidence: 78%

“…Previous studies, including our own, show that pregnant women who undergo prenatal diagnosis for a range of indications largely support the disclosure of all types of CMA findings, including VUS and SL. 9,[11][12][13] However, studies exploring parents' experience with receiving uncertain CMA results showed that parents can experience shock, anxiety, and a need for support. [14][15][16][17][18][19] Limited data are available on the effect of uncertain findings (VUS and SL) on decisions concerning the continuation of pregnancies and factors affecting these decisions.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

et al. 2023

View full text Add to dashboard Cite

Background Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualitative study provides empirical data on women's experiences with receiving such findings in pregnancy and their decisions regarding continuation or termination of the pregnancy. Methods Semi‐structured interviews were conducted with women who received a VUS and/or SL from prenatal CMA in the last 2–4 years and were analyzed using Grounded Theory. Results The vast majority of women recalled being stressed by the findings. All women sought further advice and information to be able to decide whether to continue or terminate their pregnancy. The three pregnancies that were terminated have in common a de novo SL with a 10%–20% penetrance. Similar reasoning (coping with uncertainty, the quest for a perfect child, and a chance for recurrence in future pregnancies) led different women to contradicting conclusions regarding their pregnancies. All women felt satisfied with their decisions. Conclusion Although uncertain/probabilistic information commonly involves a psychological burden, it may also be perceived as valuable and actionable. Pre‐test parental choice regarding the disclosure of such information could allow personalized utilization of advanced genomic tests in pregnancy.

show abstract

Section: Introductionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 99%

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

et al. 2023

View full text Add to dashboard Cite

show abstract

“…Based on our and others' previous works, 7,27,31,36 when women are given a choice regarding CMA findings, they are more likely to request all types of results, including uncertain information, rather than avoid such results. It could therefore be assumed that stratified choice would seem unnecessary for some women/couples.…”

Section: Discussionmentioning

confidence: 99%

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance

Libman,

Macarov,

Friedlander

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

BackgroundChromosomal‐microarray‐analysis (CMA) may reveal susceptibility‐loci (SL) of varied penetrance for autism‐spectrum‐disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied.MethodsA multiple‐choice questionnaire was distributed to postpartum women. Data were collected on women's interest to receive prenatal genetic information with various levels of penetrance.ResultsWomen's (n = 941) disclosure choices were dependent on the magnitude of risk: approximately 70% supported disclosure of either full or 40% penetrance, 53% supported disclosure at a 20% risk threshold, and 40% supported disclosure at 10% or less. Although most women supported, rejected or were indecisive about disclosure consistently across all risk levels, nearly one‐quarter (24%) varied their responses based on penetrance, and this was associated with religiosity, education, parity and concern about fetal health (p‐values <0.04). Among those who varied their choices, the risk threshold was lower among secular women (20%) than among ultraorthodox women (40%). In a multivariable analysis, ultraorthodox women were much less likely to vary their choices on ASD disclosure compared with secular women (aOR = 0.37, p < 0.001).ConclusionWomen's attitudes toward disclosure are influenced by the level of risk and their individual characteristics. We therefore encourage engaging women/couples in disclosure decisions regarding uncertain and probabilistic results from prenatal genomic tests.

show abstract

“…There is a paucity of evidence about how women want to receive information about NIPT and few studies have been conducted in Sweden. An international DCE study quantified preferences of a sample of women from different countries (including Sweden) for factors that affect their decision‐making around prenatal genomic tests 16 . However, this study assessed preferences for testing, not information provision.…”

Section: Introductionmentioning

confidence: 99%

“…An international DCE study quantified preferences of a sample of women from different countries (including Sweden) for factors that affect their decision‐making around prenatal genomic tests. 16 However, this study assessed preferences for testing, not information provision. Understanding how to effectively communicate the information to expectant mothers may mean policy makers can provide details in a way that maximises benefit to the mother and baby alike.…”

Section: Introductionmentioning

confidence: 99%

How do women want to receive information about non‐invasive prenatal testing? Evidence from a discrete choice experiment

et al. 2022

Self Cite

View full text Add to dashboard Cite

Objective: Non-invasive prenatal testing (NIPT) identifies the risk of abnormalities in pregnancy, potentially reducing the risk of miscarriage associated with invasive tests. This study aimed to understand the preferences of current and future mothers about the content, format and timing of information provision about NIPT.Methods: An online discrete choice experiment was designed comprising four attributes: when in the pregnancy information is provided (4 levels); degree of detail (2 levels); information format (6 levels); cost to women for gathering information (5 levels). Respondents included women identified by an online-panel company in Sweden. The mathematical design was informed by D-efficient criteria. Choice data were analysed using uncorrelated random parameters logit and latent class models.Results: One thousand Swedish women (56% current mothers) aged 18-45 years completed the survey. On average, women preferred extensive information provided at/before 9 weeks of pregnancy. There was heterogeneity in preferences about the desired format of information provision (website, mobile app or individual discussion with a midwife) in the population. Conclusion:Women had clear preferences about the desired content, format and timing of information provision about NIPT. It is important to tailor information provision to enable informed choices about NIPT. Key pointsWhat's already known about the topic? � Non-invasive prenatal testing (NIPT) is an emerging approach that detects fetal DNA from a maternal blood sample to identify the risk of abnormalities in pregnancy.� Parents must be given the correct type and amount of information in an appropriate format.The information is needed to provide consent for undergoing NIPT. Stuart J. Wright and Garima Dalal are joint first authors.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

show abstract

Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey

Cited by 9 publications

References 63 publications

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance

How do women want to receive information about non‐invasive prenatal testing? Evidence from a discrete choice experiment

Contact Info

Product

Resources

About